Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity

  • STATUS
    Recruiting
  • End date
    Feb 1, 2040
  • participants needed
    650
  • sponsor
    Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Updated on 22 July 2022
Accepts healthy volunteers

Summary

Background

Androgen effects in humans are usually (but not always) mediated by the androgen receptor which is coded for by the androgen receptor gene (AR gene). Androgen Insensitivity Syndrome (AIS) is a rare condition in which the body cannot sense the male hormones in the blood or tissue. Both women and men can be affected by AIS. Researchers want to learn more about the health of people with AIS over time.

With a natural history study in individuals with AIS, data and tests may provide information regarding health risks (including the risks and benefits of gonadectomy and best ways to monitor for tumor) and optimal management of individuals with AIS as well as elucidate the role of the androgen receptor in human health. This study does not involve any interventions and we can provide clinical care while collecting data.

Objective

The objective of this natural history study is to describe and define a comprehensive phenotype (characteristic) of patients with AIS based on confirmed androgen receptor (AR) gene difference. We will evaluate hormones, bone density and markers, cardiovascular and metabolic parameters, as well as quality of life and tumor formation risk and evaluation. The purpose is to obtain a better understanding of the overall health issues that people with AIS may have through the study procedures listed.

Eligibility

People ages 0-99 with AIS and their adult relatives

Design

Participants will go through a series of study procedures for data and specimen collection. This will be done to understand how AIS affects individuals since the androgen receptor is found in many tissues in the body including skin, bone, muscle, and the neurologic, immune and metabolic systems. All tests will be performed by skilled and trained study professionals.

Participants will be screened with:

Medical history

Physical exam

Medical record review

Lab tests.

Participants will have physical exams. Their body measurements will be taken. They will have blood and urine tests. They will have electrocardiograms to check heart health. They may complete questionnaires. They may have an Oral Glucose Tolerance Test.

Participants may have x-rays taken of the hand, wrist, and other bones.

Participants will have body scans to measure bone thickness.

Participants will have magnetic resonance imaging (MRI) or sonogram of the pelvis. For MRI, they may get a contrast agent via intravenous (IV) catheter.

Adult participants may have the following:

MR elastography. It uses MRI and low-frequency vibrations to map stiffness of body tissues.

MR spectroscopy. It uses MRI to take pictures of chemicals in the liver and body fat.

Cardiac computed tomography scan. It uses x-rays to make pictures of the heart. Participants may get a contrast agent via IV.

Optional genital exam.

Participants will have visits every 1-2 years. Participation lasts indefinitely.

Adult relatives will also be invited to participate but will have only 1 visit. It will include some of the above tests.

Description

Androgen effects in humans are usually (but not always) mediated by the androgen receptor which is coded for by the androgen receptor gene (AR gene). Individuals with abnormalities of this receptor gene can present with androgen insensitivity syndrome (AIS). There are a variety of phenotypes including complete female phenotype (complete androgen insensitivity or CAIS), ambiguous genitalia in cases of partial androgen insensitivity (PAIS) and male phenotype associated with infertility of hypospadias in mild cases of AIS. Complete androgen insensitivity is a rare condition with an estimated incidence of 1:20,000-64,000, while PAIS is rarer still and mild AIS has likely not been studied enough to ascertain it s prevalence. Individuals with complete and partial AIS present some management conundrums as traditionally they have undergone gonadectomy in order to avoid gonadal tumors as well as pubertal virilization in girls with PAIS. Because this is a rare condition, little is known regarding the risks and benefits of gonadectomy, optimal hormone replacement after gonadectomy as well as general health in individuals with these conditions. Furthermore, the androgen receptor is found in many tissues in the body including skin, bone, muscle, and the neurologic, immune and metabolic systems. Finally, some testosterone effects may be through mechanisms other than AR receptor and these are not well understood. A natural history study in individuals with AIS may provide information regarding health risks and optimal management of individuals with AIS as well as elucidate the role of the androgen receptor in human health.

Details
Condition Androgen Insensitivity Syndrome, Metabolic Parameters in AIS, CAIS, PAIS and MAIS, Tumor Formation in AIS, CAIS, PAIS and MAIS, Sexual Function AIS, CAIS, PAIS and MAIS
Clinical Study IdentifierNCT04708431
SponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Last Modified on22 July 2022

Eligibility

Yes No Not Sure

Inclusion Criteria

Inclusion Criteria for AIS subjects
In order to be eligible to participate in this study, an individual must meet all the
following criteria
Individuals ages 0-99 years old with known androgen insensitivity based on pathologic
androgen receptor gene mutation
Identify as male or female
Patients with both complete, partial and mild androgen insensitivity are eligible
Stated willingness to comply with all study procedures and availability for the
duration of the study
Ability of subject or guardian to understand and the willingness to sign and date a
written informed consent document
Inclusion Criteria for Relative of AIS subjects
) Adult Relatives of patients with AIS

Exclusion Criteria

Exclusion Criteria for AIS subjects
An individual who meets any of the following criteria will be excluded from
participation in this study: Patients with other diagnosis such as partial or complete
gonadal dysgenesis, 5-alpha reductase deficiency, and 46 XY. If, following a
diagnostic work-up, a patient is determined to have causes for 46 XY DSD other than
androgen insensitivity; they will no longer be followed on this protocol. They will
have the opportunity to continue care with the team under the Data Collection Protocol
or may be referred to an expert or multidisciplinary DSD team in the community
Patients with significant non-endocrine medical conditions
Exclusion Criteria for Relative of AIS subjects
) Patients with significant non-endocrine medical conditions
INCLUSION OF VULNERABLE PARTICIPANTS
Participation of Children
Children will be included in this protocol as AIS is often diagnosed early in life and has
effects on puberty and development. Every effort will be made to protect children s rights
and safety
Participation of Employees
NIH employees may be enrolled in this study as this population meets the study entry
criteria
Neither participation nor refusal to participate as a subject in the research will have an
effect, either beneficial or adverse, on the participant s employment or position at NIH
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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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